Canonical Allele Identifier: CA260359
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 35944
ClinVar RCV Id: RCV000029600 RCV000622423 RCV001843944 RCV001852592 RCV002433475
dbSNP Id: rs193922165
ExAC: 7:94054967 G / A
gnomAD v4: 7-94425655-G-A
MyVariant Identifiers: chr7:g.94054967G>A (hg19) chr7:g.94425655G>A (hg38)
PubMed: PMID:458828 PMID:2010058 PMID:2824475 PMID:8071956 PMID:9295084 PMID:9557891 PMID:15077201 PMID:17078022 PMID:21344539 PMID:21801164 PMID:21912751 PMID:24140640 PMID:24668929 PMID:25944380 PMID:28625337 PMID:28916840
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94425655G>A , CM000669.2:g.94425655G>A GRCh38
NC_000007.13:g.94054967G>A , CM000669.1:g.94054967G>A GRCh37
NC_000007.12:g.93892903G>A NCBI36
NG_007405.1:g.36095G>A , LRG_2:g.36095G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.2827G>A MANE Select ENSP00000297268.6:p.Gly943Arg
ENST00000297268.10:c.2827G>A ENSP00000297268.6:p.Gly943Arg
ENST00000469732.1:n.610G>A
ENST00000478215.1:n.386G>A
ENST00000481570.5:n.2800G>A
ENST00000620463.1:c.2821G>A ENSP00000477719.1:p.Gly941Arg
NM_000089.3:c.2827G>A , LRG_2t1:c.2827G>A NP_000080.2:p.Gly943Arg
NM_000089.4:c.2827G>A MANE Select NP_000080.2:p.Gly943Arg
Search 100 bp 5'
Search 100 bp 3'